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AICDA Gene Sequencing

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

AICDA

Disorders:

• Immunodeficiency Syndrome with Hyper-IgM

Clinical Utility:

• Confirmation of a clinical diagnosis
• Differential diagnosis from other types of B cell immunodeficiency
• Carrier testing in siblings or other relatives
• Prenatal diagnosis

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

318

Turnaround Time:

5-6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

Billing Information:

View Billing Policy

ICD Codes:

• 279.05: Immunodeficiency with increased IgM, Immunodeficiency with hyper-IgM: autosomal recessive X-linked

REFERENCES

1. Revy P., et al, 2000. Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2), Cell 102:565-575.
2. Kasahara Y., 2003. Hyper IgM syndrome with putative dominant negative mutation in activation-induced cytidine deaminase. J. Allergy Clin Immunol 112:755-760.
3. Durandy A. et al., 2006. Activation-Induced Cytidine Deaminase: Structure-Function Relationship as Based on the Study of Mutants, Human Mutation 27:1185-1191.
4. Lee, W. et al (2005) Blood 105(5):1881-1890

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